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BJPsych Bull. 2017 Apr;41(2):109-114. doi: 10.1192/pb.bp.116.054072.

Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment.

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Niemann-Pick UK, Washington, UK.
The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Manchester, UK.


Niemann-Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage disorder. It is highly heterogeneous, and there is limited awareness of a substantial subgroup that has an attenuated adolescent/adult-onset disease. In these patients psychiatric features, often a psychosis, may dominate the initial impression, although often there is an associated ataxia and cognitive impairment. Typically, patients experience a substantial diagnostic delay. In this review we highlight the importance of early recognition and discuss the pathophysiology, neuropsychiatric presentation and recent changes in the investigation and work-up of these patients, and treatment options.

Conflict of interest statement

Declaration of interest W.R.H.E. is a trustee of NP-UK and C.J.H. is Director of FYMCA Medical and consultant for Amicus, Alexion, Actelion, BioMarin, Sanofi Genzyme and Shire.

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